The insulin-like growth factor binding protein-3 （IGFBP-3） was known as a key factor that regulates the effect of insulin- like growth factors （IGF-1 and IGF-2） on pig growth and development. We first identified 3...The insulin-like growth factor binding protein-3 （IGFBP-3） was known as a key factor that regulates the effect of insulin- like growth factors （IGF-1 and IGF-2） on pig growth and development. We first identified 38 single nucleotide polymorphisms （SNPs） from a fragment of the IGFBP-3 gene spanning 1 823 bp using the denaturing high-performance liquid chromatography （DHPLC） method and confirmed them by direct sequencing. Among these SNPs, 36 located in introns and the remaining 2 in the 3 prime untranslated region （3UTR）. In addition, 16 PCR-RFLP polymorphisms were identified within these SNPs. Three SNPs were then selected to genotype 272 F2 individuals with PCR-RFLP method and the association of polymorphism with growth and carcass traits were analyzed. The results showed that no significant associations were observed between polymorphisms of A265G and A952G and traits. However, the A2670G significantly related with live body length, loin muscle area, and skin and fat percentage （P〈0.05）; highly significantly associated with weight of carcass lean and lean percentage （P〈 0.01）.展开更多
Background At least five mismatch repair （MMR） genes, including hMSH2, hMLH1, hPMS, hPMS2, and hMSH6/GTBP, are associated with hereditary nonpolyposis colorectal cancer （HNPCC）. More than 90% of families with HNPC...Background At least five mismatch repair （MMR） genes, including hMSH2, hMLH1, hPMS, hPMS2, and hMSH6/GTBP, are associated with hereditary nonpolyposis colorectal cancer （HNPCC）. More than 90% of families with HNPCC harbor the hMSH2and hMLH1 gene mutations. We have analyzed the clinical features of HNPCC among Chinese patients and report the results of screening for mutations in the hMSH2 and hMLH1 genes. Methods The data concerning gender, site of colorectal cancer （CRC）, age at diagnosis, history of synchronous and/or metachronous colorectal cancer, instance of extracolonic cancers, and histopathology of tumors for 126 patients from 28 independent families with HNPCC were collected. Fifteen of the families met the Amsterdam I criteria, and 13 met the Japanese clinical criteria for diagnosis. Genomic DNA was extracted from the peripheral lymphocytes. Polymerase chain reaction （PCR） and denaturing high-performance liquid chromatography （DHPLC） were used to screen the coding region of the hMSH2 and hMLH1 genes. Samples showing abnormal DHPLC profiles were sequenced. Results One hundred and seventy malignant neoplasms were found in the 126 patients, of whom 23 had multiple cancers. Ninety-eight of the patients （77.8%） had colorectal cancers, with an average age at onset of 45.9 years and a right-sided predominance. Eight hMSH2 or hMLH1 gene sequence variations were found in 12 families, and a germ-line G204X nonsense mutation in the third exon of hMSH2 was found, representing the first mutation in an MMR gene ever found in people of Chinese Mongolian ethnicity. Conclusions HNPCC is a typical autosomally dominant hereditary disease, characterized by early onset, a predominance of proximal colorectal cancer, and multiple synchronous and metachronous colorectal cancers. DHPLC is a powerful tool for detecting mutations in the hMSH2 and hMLH1 genes, Mutations in the first nine exons of the hMLH1 gene were more common in Chinese patients.展开更多
基金the projects under the National High Technology Research and Development Program of China(2006CB 102107)the National Natu-ral Science Foundation of China(30571327)the Key Program of Science and Technology of Guangdong Province,China(2006B20201051).
文摘The insulin-like growth factor binding protein-3 （IGFBP-3） was known as a key factor that regulates the effect of insulin- like growth factors （IGF-1 and IGF-2） on pig growth and development. We first identified 38 single nucleotide polymorphisms （SNPs） from a fragment of the IGFBP-3 gene spanning 1 823 bp using the denaturing high-performance liquid chromatography （DHPLC） method and confirmed them by direct sequencing. Among these SNPs, 36 located in introns and the remaining 2 in the 3 prime untranslated region （3UTR）. In addition, 16 PCR-RFLP polymorphisms were identified within these SNPs. Three SNPs were then selected to genotype 272 F2 individuals with PCR-RFLP method and the association of polymorphism with growth and carcass traits were analyzed. The results showed that no significant associations were observed between polymorphisms of A265G and A952G and traits. However, the A2670G significantly related with live body length, loin muscle area, and skin and fat percentage （P〈0.05）; highly significantly associated with weight of carcass lean and lean percentage （P〈 0.01）.
基金This research was supported by the grants from the National Natural Science Foundation of China （No. 39970817）, and Project Sponsored by the Scientific Research Foundation for Returned Overseas Chinese Scholars, State Education Ministry （No. 363）.
文摘Background At least five mismatch repair （MMR） genes, including hMSH2, hMLH1, hPMS, hPMS2, and hMSH6/GTBP, are associated with hereditary nonpolyposis colorectal cancer （HNPCC）. More than 90% of families with HNPCC harbor the hMSH2and hMLH1 gene mutations. We have analyzed the clinical features of HNPCC among Chinese patients and report the results of screening for mutations in the hMSH2 and hMLH1 genes. Methods The data concerning gender, site of colorectal cancer （CRC）, age at diagnosis, history of synchronous and/or metachronous colorectal cancer, instance of extracolonic cancers, and histopathology of tumors for 126 patients from 28 independent families with HNPCC were collected. Fifteen of the families met the Amsterdam I criteria, and 13 met the Japanese clinical criteria for diagnosis. Genomic DNA was extracted from the peripheral lymphocytes. Polymerase chain reaction （PCR） and denaturing high-performance liquid chromatography （DHPLC） were used to screen the coding region of the hMSH2 and hMLH1 genes. Samples showing abnormal DHPLC profiles were sequenced. Results One hundred and seventy malignant neoplasms were found in the 126 patients, of whom 23 had multiple cancers. Ninety-eight of the patients （77.8%） had colorectal cancers, with an average age at onset of 45.9 years and a right-sided predominance. Eight hMSH2 or hMLH1 gene sequence variations were found in 12 families, and a germ-line G204X nonsense mutation in the third exon of hMSH2 was found, representing the first mutation in an MMR gene ever found in people of Chinese Mongolian ethnicity. Conclusions HNPCC is a typical autosomally dominant hereditary disease, characterized by early onset, a predominance of proximal colorectal cancer, and multiple synchronous and metachronous colorectal cancers. DHPLC is a powerful tool for detecting mutations in the hMSH2 and hMLH1 genes, Mutations in the first nine exons of the hMLH1 gene were more common in Chinese patients.
